ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002367489 SCV002665795 uncertain significance Cardiovascular phenotype 2022-10-11 criteria provided, single submitter clinical testing The p.A238V variant (also known as c.713C>T), located in coding exon 1 of the ZNF469 gene, results from a C to T substitution at nucleotide position 713. The alanine at codon 238 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV003331357 SCV004037572 not provided Brittle cornea syndrome 1 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 01-08-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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